Renata Thomazini Dallago, Rafael Loch Batista, Berenice Bilharinho de Mendonça, Vania dos Santos Nunes Nogueira
{"title":"The genotype-phenotype correlation of NR5A1 variants in 46,XY individuals: a study protocol","authors":"Renata Thomazini Dallago, Rafael Loch Batista, Berenice Bilharinho de Mendonça, Vania dos Santos Nunes Nogueira","doi":"10.1101/2024.08.27.24312633","DOIUrl":null,"url":null,"abstract":"<strong>Introduction</strong> Disorders of sex development (DSDs) were defined as congenital conditions in which the development of chromosomal, gonadal and anatomic sex is atypical. Nuclear receptor subfamily 5 group A member 1 (<em>NR5A1</em>), previously known as steroidogenic factor 1 (<em>SF1</em>) plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, adrenal and gonadal development, and reproduction. <em>NR5A1</em> emerged to be causative of 10 to 20% of 46,XY DSD.","PeriodicalId":501419,"journal":{"name":"medRxiv - Endocrinology","volume":"58 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"medRxiv - Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/2024.08.27.24312633","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction Disorders of sex development (DSDs) were defined as congenital conditions in which the development of chromosomal, gonadal and anatomic sex is atypical. Nuclear receptor subfamily 5 group A member 1 (NR5A1), previously known as steroidogenic factor 1 (SF1) plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, adrenal and gonadal development, and reproduction. NR5A1 emerged to be causative of 10 to 20% of 46,XY DSD.
IF 3.5 2区 医学Prevention SciencePub Date : 2021-10-01DOI: 10.1007/s11121-021-01230-x
Magreat Somba, Sylvia Kaaya, Hellen Siril, Kicki Oljemark, Donald Ainebyona, Elspeth McAdam, James Todd, Irene Andrew, Keith McAdam, Alice Simwinga, Neema Mleli, Samwel Makongwa, Sabina Haberlen, Mary C Smith Fawzi